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Mitochondrial cytochrome c oxidase deficiency.
Rak M, Bénit P, Chrétien D, Bouchereau J, Schiff M, El-Khoury R, Tzagoloff A, Rustin P. Rak M, et al. Among authors: bouchereau j. Clin Sci (Lond). 2016 Mar;130(6):393-407. doi: 10.1042/CS20150707. Clin Sci (Lond). 2016. PMID: 26846578 Free PMC article. Review.
Neurocognitive profiles in MSUD school-age patients.
Bouchereau J, Leduc-Leballeur J, Pichard S, Imbard A, Benoist JF, Abi Warde MT, Arnoux JB, Barbier V, Brassier A, Broué P, Cano A, Chabrol B, Damon G, Gay C, Guillain I, Habarou F, Lamireau D, Ottolenghi C, Paermentier L, Sabourdy F, Touati G, Ogier de Baulny H, de Lonlay P, Schiff M. Bouchereau J, et al. J Inherit Metab Dis. 2017 May;40(3):377-383. doi: 10.1007/s10545-017-0033-7. Epub 2017 Mar 21. J Inherit Metab Dis. 2017. PMID: 28324240
Long-term liver disease in methylmalonic and propionic acidemias.
Imbard A, Garcia Segarra N, Tardieu M, Broué P, Bouchereau J, Pichard S, de Baulny HO, Slama A, Mussini C, Touati G, Danjoux M, Gaignard P, Vogel H, Labarthe F, Schiff M, Benoist JF. Imbard A, et al. Among authors: bouchereau j. Mol Genet Metab. 2018 Apr;123(4):433-440. doi: 10.1016/j.ymgme.2018.01.009. Epub 2018 Feb 7. Mol Genet Metab. 2018. PMID: 29433791
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M. Russell BE, et al. Among authors: bouchereau j. Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. Hepatology. 2019. PMID: 30912852 Review. No abstract available.
Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls.
Catania A, Iuso A, Bouchereau J, Kremer LS, Paviolo M, Terrile C, Bénit P, Rasmusson AG, Schwarzmayr T, Tiranti V, Rustin P, Rak M, Prokisch H, Schiff M. Catania A, et al. Among authors: bouchereau j. Orphanet J Rare Dis. 2019 Oct 29;14(1):236. doi: 10.1186/s13023-019-1185-3. Orphanet J Rare Dis. 2019. PMID: 31665043 Free PMC article.
29 results